Incidental Mutation 'PIT4434001:Ptprs'
| ID |
555084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprs
|
| Ensembl Gene |
ENSMUSG00000013236 |
| Gene Name |
protein tyrosine phosphatase receptor type S |
| Synonyms |
Ptpt9, PTPsigma, PTP-NU3, RPTPsigma |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4434001 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56719426-56783480 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56761984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 43
(I43V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067538]
[ENSMUST00000086828]
[ENSMUST00000223742]
[ENSMUST00000223859]
|
| AlphaFold |
B0V2N1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067538
AA Change: I43V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: I43V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
23 |
N/A |
INTRINSIC |
|
IGc2
|
45 |
114 |
3.38e-10 |
SMART |
|
IGc2
|
147 |
214 |
2.4e-15 |
SMART |
|
IGc2
|
244 |
305 |
8.26e-5 |
SMART |
|
FN3
|
319 |
398 |
2.8e-14 |
SMART |
|
FN3
|
414 |
497 |
3.24e-10 |
SMART |
|
FN3
|
512 |
590 |
3.17e-13 |
SMART |
|
FN3
|
605 |
692 |
9.69e-9 |
SMART |
|
FN3
|
707 |
796 |
2.42e-9 |
SMART |
|
FN3
|
811 |
890 |
2.22e0 |
SMART |
|
FN3
|
905 |
995 |
8.31e-8 |
SMART |
|
FN3
|
1009 |
1085 |
3.22e-5 |
SMART |
|
low complexity region
|
1164 |
1177 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1259 |
1281 |
N/A |
INTRINSIC |
|
PTPc
|
1351 |
1609 |
1.54e-136 |
SMART |
|
PTPc
|
1638 |
1900 |
3.12e-128 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086828
AA Change: I43V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: I43V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
23 |
N/A |
INTRINSIC |
|
IGc2
|
45 |
114 |
3.38e-10 |
SMART |
|
IGc2
|
147 |
214 |
2.4e-15 |
SMART |
|
IGc2
|
244 |
305 |
8.26e-5 |
SMART |
|
FN3
|
319 |
398 |
2.8e-14 |
SMART |
|
FN3
|
414 |
497 |
3.24e-10 |
SMART |
|
FN3
|
512 |
590 |
3.17e-13 |
SMART |
|
FN3
|
603 |
679 |
2.54e-3 |
SMART |
|
low complexity region
|
758 |
771 |
N/A |
INTRINSIC |
|
transmembrane domain
|
853 |
875 |
N/A |
INTRINSIC |
|
PTPc
|
945 |
1203 |
1.54e-136 |
SMART |
|
PTPc
|
1232 |
1494 |
3.12e-128 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143018
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223742
AA Change: I43V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223859
AA Change: I43V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225381
|
| Meta Mutation Damage Score |
0.1529 |
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Almost half of null homozygotes die in the first day of life. Embryos are characterized by decreased brain size including small pituitary glands and small olfactory bulbs. Adult mice are small, lack estrus, have decreased litter sizes and have impairedolfaction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
A |
11: 117,696,869 (GRCm39) |
D196E |
probably benign |
Het |
| Abcb5 |
G |
A |
12: 118,854,422 (GRCm39) |
S831F |
probably damaging |
Het |
| Alg2 |
C |
A |
4: 47,474,076 (GRCm39) |
A71S |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,509,412 (GRCm39) |
Q62R |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,164,632 (GRCm39) |
V664A |
probably benign |
Het |
| Bbox1 |
A |
C |
2: 110,105,979 (GRCm39) |
D188E |
probably benign |
Het |
| Bmi1 |
C |
T |
2: 18,689,042 (GRCm39) |
T242M |
probably benign |
Het |
| C4bp |
A |
G |
1: 130,584,947 (GRCm39) |
F30L |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,145 (GRCm39) |
N214S |
probably null |
Het |
| Cep162 |
C |
A |
9: 87,075,701 (GRCm39) |
K1310N |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,548,421 (GRCm39) |
V21M |
unknown |
Het |
| Copa |
A |
G |
1: 171,933,742 (GRCm39) |
D401G |
probably benign |
Het |
| Cyp4f14 |
A |
G |
17: 33,125,104 (GRCm39) |
V439A |
possibly damaging |
Het |
| Ddhd1 |
A |
C |
14: 45,848,062 (GRCm39) |
N569K |
possibly damaging |
Het |
| Dennd5a |
A |
G |
7: 109,532,831 (GRCm39) |
L313P |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,385,524 (GRCm39) |
F326L |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,068,276 (GRCm39) |
H864Q |
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,907,612 (GRCm39) |
V2797I |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,229,134 (GRCm39) |
D692G |
probably damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,052,500 (GRCm39) |
S278P |
probably damaging |
Het |
| Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
| Grn |
C |
T |
11: 102,326,766 (GRCm39) |
H482Y |
possibly damaging |
Het |
| Igkv7-33 |
A |
G |
6: 70,035,797 (GRCm39) |
Y62H |
possibly damaging |
Het |
| Kdm4c |
A |
G |
4: 74,189,569 (GRCm39) |
T95A |
probably benign |
Het |
| Lrp3 |
T |
C |
7: 34,903,420 (GRCm39) |
T309A |
probably damaging |
Het |
| Map3k2 |
C |
A |
18: 32,343,088 (GRCm39) |
D279E |
possibly damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,003 (GRCm39) |
V358E |
probably damaging |
Het |
| Mcpt9 |
A |
G |
14: 56,266,686 (GRCm39) |
S14P |
probably benign |
Het |
| Or10b1 |
T |
C |
10: 78,355,549 (GRCm39) |
F36L |
possibly damaging |
Het |
| Or51a8 |
T |
C |
7: 102,549,837 (GRCm39) |
F88L |
probably benign |
Het |
| Or52a33 |
A |
C |
7: 103,289,054 (GRCm39) |
C98G |
probably damaging |
Het |
| Otud7b |
G |
A |
3: 96,047,776 (GRCm39) |
R45H |
probably damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,704 (GRCm39) |
N165D |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,779,681 (GRCm39) |
T538A |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,328,458 (GRCm39) |
E311G |
probably damaging |
Het |
| Raet1d |
A |
T |
10: 22,247,433 (GRCm39) |
K170* |
probably null |
Het |
| Rufy2 |
A |
T |
10: 62,826,845 (GRCm39) |
Q128L |
possibly damaging |
Het |
| Svopl |
T |
C |
6: 37,991,801 (GRCm39) |
N360D |
possibly damaging |
Het |
| Syt4 |
A |
C |
18: 31,573,384 (GRCm39) |
L377W |
probably damaging |
Het |
| Taar7a |
A |
G |
10: 23,869,319 (GRCm39) |
F21L |
probably benign |
Het |
| Tax1bp3 |
T |
A |
11: 73,071,630 (GRCm39) |
M78K |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,423,780 (GRCm38) |
|
probably null |
Het |
| Trim52 |
A |
T |
14: 106,344,732 (GRCm39) |
D130V |
probably benign |
Het |
| Ttc1 |
T |
C |
11: 43,635,955 (GRCm39) |
Y96C |
probably damaging |
Het |
| Vmn2r49 |
T |
C |
7: 9,710,762 (GRCm39) |
T657A |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,881,817 (GRCm39) |
F1259I |
|
Het |
| Zbtb18 |
A |
T |
1: 177,275,989 (GRCm39) |
T441S |
possibly damaging |
Het |
|
| Other mutations in Ptprs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Ptprs
|
APN |
17 |
56,765,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01388:Ptprs
|
APN |
17 |
56,728,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01568:Ptprs
|
APN |
17 |
56,720,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01781:Ptprs
|
APN |
17 |
56,742,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02499:Ptprs
|
APN |
17 |
56,744,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02576:Ptprs
|
APN |
17 |
56,721,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02736:Ptprs
|
APN |
17 |
56,765,248 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02871:Ptprs
|
APN |
17 |
56,754,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02946:Ptprs
|
APN |
17 |
56,731,032 (GRCm39) |
missense |
probably benign |
|
|
IGL03061:Ptprs
|
APN |
17 |
56,725,830 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03347:Ptprs
|
APN |
17 |
56,742,972 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03351:Ptprs
|
APN |
17 |
56,744,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0019:Ptprs
|
UTSW |
17 |
56,754,474 (GRCm39) |
splice site |
probably benign |
|
|
PIT4520001:Ptprs
|
UTSW |
17 |
56,721,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Ptprs
|
UTSW |
17 |
56,743,087 (GRCm39) |
splice site |
probably null |
|
|
R0240:Ptprs
|
UTSW |
17 |
56,743,087 (GRCm39) |
splice site |
probably null |
|
|
R0504:Ptprs
|
UTSW |
17 |
56,761,220 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0518:Ptprs
|
UTSW |
17 |
56,726,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0539:Ptprs
|
UTSW |
17 |
56,765,255 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0620:Ptprs
|
UTSW |
17 |
56,736,103 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0683:Ptprs
|
UTSW |
17 |
56,721,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Ptprs
|
UTSW |
17 |
56,730,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Ptprs
|
UTSW |
17 |
56,730,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Ptprs
|
UTSW |
17 |
56,731,128 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1502:Ptprs
|
UTSW |
17 |
56,744,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1817:Ptprs
|
UTSW |
17 |
56,726,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Ptprs
|
UTSW |
17 |
56,741,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2077:Ptprs
|
UTSW |
17 |
56,741,990 (GRCm39) |
missense |
probably null |
0.26 |
|
R2086:Ptprs
|
UTSW |
17 |
56,761,984 (GRCm39) |
missense |
probably null |
0.02 |
|
R2149:Ptprs
|
UTSW |
17 |
56,724,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3618:Ptprs
|
UTSW |
17 |
56,735,965 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3722:Ptprs
|
UTSW |
17 |
56,724,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Ptprs
|
UTSW |
17 |
56,735,978 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3772:Ptprs
|
UTSW |
17 |
56,735,978 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3773:Ptprs
|
UTSW |
17 |
56,735,978 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4032:Ptprs
|
UTSW |
17 |
56,720,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Ptprs
|
UTSW |
17 |
56,754,468 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4327:Ptprs
|
UTSW |
17 |
56,754,468 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4480:Ptprs
|
UTSW |
17 |
56,733,404 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4505:Ptprs
|
UTSW |
17 |
56,758,678 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4507:Ptprs
|
UTSW |
17 |
56,726,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4588:Ptprs
|
UTSW |
17 |
56,732,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4662:Ptprs
|
UTSW |
17 |
56,724,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Ptprs
|
UTSW |
17 |
56,735,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5016:Ptprs
|
UTSW |
17 |
56,726,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Ptprs
|
UTSW |
17 |
56,742,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5447:Ptprs
|
UTSW |
17 |
56,736,128 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6041:Ptprs
|
UTSW |
17 |
56,726,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6329:Ptprs
|
UTSW |
17 |
56,724,427 (GRCm39) |
nonsense |
probably null |
|
|
R6377:Ptprs
|
UTSW |
17 |
56,725,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6605:Ptprs
|
UTSW |
17 |
56,729,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Ptprs
|
UTSW |
17 |
56,744,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Ptprs
|
UTSW |
17 |
56,758,697 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7114:Ptprs
|
UTSW |
17 |
56,758,697 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7133:Ptprs
|
UTSW |
17 |
56,724,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Ptprs
|
UTSW |
17 |
56,725,988 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7423:Ptprs
|
UTSW |
17 |
56,721,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7440:Ptprs
|
UTSW |
17 |
56,731,256 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7457:Ptprs
|
UTSW |
17 |
56,726,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7574:Ptprs
|
UTSW |
17 |
56,730,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7851:Ptprs
|
UTSW |
17 |
56,732,482 (GRCm39) |
missense |
probably benign |
|
|
R7903:Ptprs
|
UTSW |
17 |
56,731,960 (GRCm39) |
nonsense |
probably null |
|
|
R8013:Ptprs
|
UTSW |
17 |
56,742,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8014:Ptprs
|
UTSW |
17 |
56,742,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Ptprs
|
UTSW |
17 |
56,735,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8112:Ptprs
|
UTSW |
17 |
56,741,532 (GRCm39) |
nonsense |
probably null |
|
|
R8181:Ptprs
|
UTSW |
17 |
56,736,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8511:Ptprs
|
UTSW |
17 |
56,754,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Ptprs
|
UTSW |
17 |
56,742,849 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8875:Ptprs
|
UTSW |
17 |
56,742,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Ptprs
|
UTSW |
17 |
56,730,320 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8970:Ptprs
|
UTSW |
17 |
56,730,353 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9117:Ptprs
|
UTSW |
17 |
56,742,853 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9297:Ptprs
|
UTSW |
17 |
56,765,257 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9539:Ptprs
|
UTSW |
17 |
56,725,715 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9803:Ptprs
|
UTSW |
17 |
56,729,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF014:Ptprs
|
UTSW |
17 |
56,723,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Ptprs
|
UTSW |
17 |
56,744,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ptprs
|
UTSW |
17 |
56,741,468 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1176:Ptprs
|
UTSW |
17 |
56,729,211 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Ptprs
|
UTSW |
17 |
56,724,050 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGAGGACTCACAAGACAGAG -3'
(R):5'- TAGCAGGTCATCACTGAGGC -3'
Sequencing Primer
(F):5'- CCTGCAGTGCCAGAAACAGG -3'
(R):5'- CAGGTCATCACTGAGGCATATCTAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation